About this blog.

This blog is a forum for disseminating the science, culture, and life of the Broad Institute. Reflecting the unique, collaborative community that is the Broad, you have the opportunity to hear from – and respond to – a variety of contributors. Click here to read our Community Guidelines.

Archives

Categories

Blog

Even though it was introduced more than fifty years ago as a treatment for bipolar disease lithium remains an enigma. It is one of the few medicines that retains its place as the main therapy for treating its targeted disease over the course of its lengthy life. But no one knows for sure how it works.

Scientists at the Broad Institute and Uppsala University in Sweden have made a discovery in the Shar-Pei dog breed that may help explain the cause of repetitive human fever illnesses. In a recent paper, the team published that a genetic regulatory gene mutation causes the dogs to develop Familial Shar-Pei Fever (FSF), a repetitive fever and joint inflammation disorder. This gene mutation centers around hyaluronan (HA), a large sugar found in abundance in the Shar-Pei’s folded skin.

Medulloblastoma tumors are the most common type of childhood brain cancer. Each year, about 600 children are diagnosed with the disease. Today, all children with medulloblastoma over age three receive standardized high doses of radiation and chemotherapy. The good news is that this approach produces a cure in about half of the cases. That number reaches up to 80% for those tumor types identified as having a good prognosis. The bad news is that the intellectual costs of irradiating the brain of a child are high.

About every 25 seconds, someone in the U.S. will have a heart attack or stroke. Half will die as a result, or approximately 620,000 people every year. This means that heart disease accounts for about 25% of American deaths.

Because heart disease poses such a significant health threat, finding ways to predict who is likely to have a heart attack or stroke remains the subject of intense research.

Even though February is the month formally acknowledged as American Heart Month, it is a disease that is on the minds of many researchers at the Broad every day.

Since 2007, a new type of human stem cell has been available for research study. The inducible pluripotent stem cell, or iPS cell, can go on to develop into any cell type of the body. Its source is a reprogrammed adult cell, not an embryonic cell (ES). When iPS cells were first created, many within scientific laboratories and certainly those external to the bench thought iPS cells would be the solution to the thorny issues surrounding the harvesting of embryonic sources of stem cells. They may in fact prove to be so.

Researchers at the Stanley Center for Psychiatric Research, a part of the Broad Institute, are taking on two common but complex psychiatric diseases – bipolar disorder and schizophrenia. Among the Stanley Center investigators is Jon Madison, a group leader within the Center whose work involves digging into the genetic contributions to both disorders.

I saw a mention today that the purported oldest elephant in North America died yesterday at the age of 71. Taj, who resided at Six Flags Discovery Kingdom, was an Asian elephant - a smaller elephant compared with the African savannah elephant, Loxodonta africana. Aside from being long-lived, Taj also appears to have had an artist's sense creating paintings sold for charity.

Part of what we do at the Broad involves unraveling the genomes of humans, dogs, and dozens of other creatures as part of a larger mission to improve human health. In addition to finding genes or mutations linked with disease, Broad scientists seek to learn what the genes are doing functionally, and how to use that information to devise new therapies.

In an earlier post we took note of the birthday of Nettie Maria Stevens, noted female geneticist whose research on chromosomes of the common fruit fly Drosophila melanogaster furthered understanding of chromosomal sex determination.

In a paper published January 5, 2011 in Science Translational Medicine, Anna Mandinova and Sam Lee, both researchers at Massachusetts General Hospital and associate members of the Broad, describe the obstacles and promise of developing small compounds that target the p53 pathway, the most common pathway involved in cancer. I asked them both to discuss the challenges of finding p53-targeted molecules and the approaches they are currently working on.